{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:51:43Z","timestamp":1790419903606,"version":"4.1.0"},"reference-count":29,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,11,10]],"date-time":"2020-11-10T00:00:00Z","timestamp":1604966400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2020.542004","type":"journal-article","created":{"date-parts":[[2020,11,10]],"date-time":"2020-11-10T07:07:00Z","timestamp":1604992020000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":11,"title":["A Novel Nonsense GLI3 Variant Is Associated With Polydactyly and Syndactyly in a Family by Blocking the Sonic Hedgehog Signaling Pathway"],"prefix":"10.3389","volume":"11","author":[{"given":"Ying","family":"Xiang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoliang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyan","family":"Zhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jue","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiqing","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanxin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qihua","family":"Fu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunlan","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoqing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2020,11,10]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"744","DOI":"10.1089\/gtmb.2019.0071","article-title":"Variants in GLI3 cause greig cephalopolysyndactyly syndrome.","volume":"23","author":"Abdullah","year":"2019","journal-title":"Genet. Test Mol. Biomarkers"},{"key":"B2","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/j.jsb.2012.05.004","article-title":"Quantitative assessment of forward and backward second harmonic three dimensional images of collagen type I matrix remodeling in a stimulated cellular environment.","volume":"180","author":"Abraham","year":"2012","journal-title":"J. Struct. Biol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1016\/j.cell.2004.07.023","article-title":"Dynamic changes in the response of cells to positive hedgehog signaling during mouse limb patterning.","volume":"118","author":"Ahn","year":"2004","journal-title":"Cell"},{"key":"B4","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1111\/cge.12952","article-title":"GLI3-related polydactyly: a review.","volume":"92","author":"Al-Qattan","year":"2017","journal-title":"Clin. Genet"},{"key":"B5","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1038\/ng1197-259","article-title":"Strike three for GLI3.","volume":"17","author":"Biesecker","year":"1997","journal-title":"Nat. Genet."},{"key":"B6","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1136\/jmg.2004.029181","article-title":"What you can learn from one gene: GLI3.","author":"Biesecker","year":"2006"},{"key":"B7","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1002\/ajmg.a.32596","article-title":"Elements of morphology: standard terminology for the hands and feet.","author":"Biesecker","year":"2009","journal-title":"Am. J. Med. Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1910","DOI":"10.1101\/gad.1794109","article-title":"Cilium-independent regulation of Gli protein function by sufu in hedgehog signaling is evolutionarily conserved.","volume":"23","author":"Chen","year":"2009","journal-title":"Genes. Dev"},{"key":"B9","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1038\/ejhg.2014.62","article-title":"New in sights intogenotype-phenotype correlation for GLI3 mutations.","volume":"23","author":"D\u00e9murger","year":"2015","journal-title":"Eur. J. Hum. Genet"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1381","article-title":"An integrated framework for discovery and genotyping of genomic variants from high-through put sequencing experiments.","volume":"42","author":"Duitama","year":"2014","journal-title":"Nucl. Acids Res"},{"key":"B11","doi-asserted-by":"publisher","first-page":"804","DOI":"10.1136\/jmg.39.11.804","article-title":"De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.","volume":"39","author":"Elson","year":"2002","journal-title":"J. Med. Genet"},{"key":"B12","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1002\/ajmg.a.32597","article-title":"Elements of morphology: standard terminology for the periorbital region.","author":"Hall","year":"2009","journal-title":"Am. J. Med. Genet."},{"key":"B13","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1146\/annurev-cellbio-092910-154048","article-title":"Gli proteins in development and disease.","volume":"27","author":"Hui","year":"2011","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"670","DOI":"10.1101\/gad.1902910","article-title":"The output of Hedgehog signaling is controlled by the dynamic association between suppressor of Fused and the Gli proteins.","volume":"24","author":"Humke","year":"2010","journal-title":"Genes Dev"},{"key":"B15","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1007\/s13353-012-0109-x","article-title":"Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations.","volume":"53","author":"Jamsheer","year":"2012","journal-title":"J. Appl. Genet"},{"key":"B16","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1086\/429346","article-title":"Molecular and clinical analysis of grieg cephalopolysyndactyly and pallister-hall syndromes:robust phenotype prediction from the type and position of GLI3 mutations.","volume":"76","author":"Johnston","year":"2005","journal-title":"Am. J. Hum. Genet"},{"key":"B17","doi-asserted-by":"publisher","first-page":"1142","DOI":"10.1002\/humu.21328","article-title":"Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.","volume":"31","author":"Johnston","year":"2010","journal-title":"Hum. Mutat"},{"key":"B18","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1038\/ng0397-266","article-title":"GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.","volume":"15","author":"Kang","year":"1997","journal-title":"Nat. Genet"},{"key":"B19","doi-asserted-by":"publisher","first-page":"2283","DOI":"10.1093\/bioinformatics\/btp373","article-title":"Varscan: variant detection in massively parallel sequencing of individual and pooled samples.","volume":"25","author":"Koboldt","year":"2009","journal-title":"Bioinformatics"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0007471","article-title":"Point mutations in GLI3 lead to misregulation of its subcellular localization.","volume":"4","author":"Krau\u03b2","year":"2009","journal-title":"PLoS One"},{"key":"B21","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with burrows-wheeler transform.","volume":"26","author":"Li","year":"2010","journal-title":"Bioinformatics"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1186\/s12964-020-00540-x","article-title":"GLI3: a mediator of genetic diseases, development and cancer.","volume":"18","author":"Matissek","year":"2020","journal-title":"Commun. Signaling"},{"key":"B23","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.10-7524.110","article-title":"The Genome analysis toolkit: a mapreduce framework for analyzing next-generation DNA sequencing data.","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res"},{"key":"B24","doi-asserted-by":"publisher","first-page":"900","DOI":"10.1172\/JCI23675","article-title":"An inversion involving the mouse SHH locus results in brachydactyly through dysregulation of SHH expression.","volume":"115","author":"Niedermaier","year":"2005","journal-title":"J. Clin. Invest"},{"key":"B25","doi-asserted-by":"publisher","first-page":"645","DOI":"10.1086\/302557","article-title":"The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A\/B; no phenotype prediction from the position of GLI3 mutations.","volume":"65","author":"Radhakrishna","year":"1999","journal-title":"Am. J. Hum. Genet"},{"key":"B26","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology.","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"B27","doi-asserted-by":"publisher","first-page":"2880","DOI":"10.1073\/pnas.96.6.2880","article-title":"GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization.","volume":"96","author":"Shin","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U S A."},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2017.00014","article-title":"Sonic hedgehog signaling in limb development.","volume":"5","author":"Tickle","year":"2017","journal-title":"Front. Cell Dev. Biol"},{"key":"B29","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1038\/35-2539a0","article-title":"GLI3 zinc-finger gene interrupted by translocations in greig syndrome families.","volume":"352","author":"Vortkamp","year":"1991","journal-title":"Nature"}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2020.542004\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,10]],"date-time":"2020-11-10T07:07:07Z","timestamp":1604992027000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2020.542004\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,10]]},"references-count":29,"alternative-id":["10.3389\/fgene.2020.542004"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2020.542004","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,10]]},"article-number":"542004"}}